Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.P298_P303ins2
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F12

NM_000505.4:p.P298_P303ins2

Associated Papers

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Drouet C et al.

Frontiers in Allergy, 2022

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Sharma J et al.

Clinical Reviews in Allergy & Immunology, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

Periodic Severe Angioedema without Exogenous Hormone Exposure.

Nabavi M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

Angioedema without urticaria: novel findings which must be measured in clinical setting.

Veronez CL et al.

Current Opinion in Allergy and Clinical Immunology, 2020

An update on the genetics and pathogenesis of hereditary angioedema.

Banday AZ et al.

Genes & Diseases, 2020

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).

Stieber C et al.

European Journal of Human Genetics : Ejhg, 2017

The role of the complement system in hereditary angioedema.

Csuka D et al.

Molecular Immunology, 2017

A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema.

Veronez CL et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017

Genetics of Hereditary Angioedema Revisited.

Germenis AE et al.

Clinical Reviews in Allergy & Immunology, 2016

Characterization of patients with angioedema without wheals: the importance of F12 gene screening.

Firinu D et al.

Clinical Immunology (orlando, Fla.), 2015

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.

Charignon D et al.

Allergy, 2014

Novel duplication in the F12 gene in a patient with recurrent angioedema.

Kiss N et al.

Clinical Immunology (orlando, Fla.), 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."